Synopsis
mitochondrial encephalomyopathy
lactic acidosis
stroke
rare glomerulopathy (11506292)
Etiology
mitochondrial DNA mutations of the MTTL1 gene (mitochondrial transfer RNA leucine 1)
- The mitochondrial tRNA for leucine (UUR) is encoded by nucleotides 3230-3304. (In UUR, R = A or G.)
- The uridine in the wobble position of the anticodon of MTTL1 is modified to taurinomethyluridine.
- MTTL1 containing the 3243A-G (MIM.590050) or 3271T-C (590050.0002) mutations, both of which result in MELAS syndrome (540000), lack this modification.
References
Matsumoto J, Saver JL, Brennan KC, Ringman JM. Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS). Rev Neurol Dis. 2005 Winter;2(1):30-4. PMID: 16400302
Jacobs HT, Holt IJ. The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t. Hum Mol Genet. 2000 Mar 1;9(4):463-5. PMID: 10699169